Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (39)

2024

  1. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

    Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28

  2. A Systematic Review on the Genetic Contribution to Tinnitus

    JARO - Journal of the Association for Research in Otolaryngology, Vol. 25, Núm. 1, pp. 13-33

  3. An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population

    Human Genetics

  4. Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia

    Endocrine, Vol. 83, Núm. 3, pp. 747-756

  5. Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease

    Genes and Immunity

  6. Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease

    Genes, Vol. 15, Núm. 1

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

  2. A second update on mapping the human genetic architecture of COVID-19

    Nature

  3. A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases

    Journal of Biomedical Informatics, Vol. 143

  4. Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease

    Cells, Vol. 12, Núm. 7

  5. Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi

    Molecular Therapy Nucleic Acids, Vol. 34

  6. Types of Inheritance and Genes Associated with Familial Meniere Disease

    JARO - Journal of the Association for Research in Otolaryngology, Vol. 24, Núm. 3, pp. 269-279

2022

  1. A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss

    European Journal of Human Genetics, Vol. 30, Núm. 11, pp. 1301-1305

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus

    npj Genomic Medicine, Vol. 7, Núm. 1

2021

  1. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

  2. miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease

    Archivos de Bronconeumologia, Vol. 57, Núm. 7, pp. 457-463

2020

  1. Lncrna-mrna co-expression analysis identifies al133346.1/ccn2 as biomarkers in pediatric b-cell acute lymphoblastic leukemia

    Cancers, Vol. 12, Núm. 12, pp. 1-15

  2. Neurotoxicity by mercury is not associated with autism spectrum disorders in Spanish children

    Italian Journal of Pediatrics, Vol. 46, Núm. 1

2019

  1. 3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations

    European Journal of Internal Medicine, Vol. 69, pp. 14-19